Canonical Allele Identifier: CA389835694

Gene: TMEM260

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56634918G>C , CM000676.2:g.56634918G>C	GRCh38
NC_000014.8:g.57101636G>C , CM000676.1:g.57101636G>C	GRCh37
NC_000014.7:g.56171389G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017799.4:c.1744G>C MANE Select	NP_060269.3:p.Glu582Gln
ENST00000261556.11:c.1744G>C MANE Select	ENSP00000261556.6:p.Glu582Gln
NM_017799.3:c.1744G>C	NP_060269.3:p.Glu582Gln
ENST00000261556.10:c.1744G>C	ENSP00000261556.6:p.Glu582Gln
ENST00000538838.5:c.*342G>C	ENSP00000441934.1:n.*342G>C
ENST00000539559.6:c.*654G>C	ENSP00000442602.2:n.*654G>C
ENST00000555497.5:c.*1046G>C	ENSP00000452065.1:n.*1046G>C
ENST00000556422.5:c.*342G>C	ENSP00000450988.1:n.*342G>C
ENST00000556648.1:n.1208G>C
XM_005267771.1:c.703G>C	XP_005267828.1:p.Glu235Gln
XM_006720176.1:c.904G>C	XP_006720239.1:p.Glu302Gln
XM_006720178.1:c.703G>C	XP_006720241.1:p.Glu235Gln
XM_011536850.1:c.1609G>C	XP_011535152.1:p.Glu537Gln
XM_011536851.1:c.1744G>C	XP_011535153.1:p.Glu582Gln
XM_011536851.2:c.1744G>C	XP_011535153.1:p.Glu582Gln
XM_011536852.1:c.1393G>C	XP_011535154.1:p.Glu465Gln
XM_011536853.1:c.1276G>C	XP_011535155.1:p.Glu426Gln
XM_011536855.1:c.871G>C	XP_011535157.1:p.Glu291Gln
XM_011536856.1:c.703G>C	XP_011535158.1:p.Glu235Gln
XM_017021379.2:c.1744G>C	XP_016876868.1:p.Glu582Gln
XM_017021380.1:c.904G>C	XP_016876869.1:p.Glu302Gln
XM_024449636.1:c.703G>C	XP_024305404.1:p.Glu235Gln
XR_001750382.2:n.1867G>C
XR_001750385.2:n.1961G>C
XR_001750386.2:n.2032G>C
XR_001750387.2:n.1695G>C
XR_245695.1:n.1696G>C
XR_245695.2:n.1695G>C
XR_943481.1:n.1868G>C
XR_943905.1:n.1144-1436C>G
XR_943905.3:n.487-1436C>G